Entity Details

Primary name AL3A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51648
EntryNameAL3A2_HUMAN
FullNameAldehyde dehydrogenase family 3 member A2
TaxID9606
Evidenceevidence at protein level
Length485
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesALDH3A2

GO terms

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GOName
GO:0001561 fatty acid alpha-oxidation
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity
GO:0004029 aldehyde dehydrogenase (NAD+) activity
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006081 cellular aldehyde metabolic process
GO:0006714 sesquiterpenoid metabolic process
GO:0007417 central nervous system development
GO:0007422 peripheral nervous system development
GO:0008544 epidermis development
GO:0016021 integral component of membrane
GO:0030148 sphingolipid biosynthetic process
GO:0033306 phytol metabolic process
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0043878 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity
GO:0045046 protein import into peroxisome membrane
GO:0045048 protein insertion into ER membrane
GO:0046458 hexadecanal metabolic process
GO:0046577 long-chain-alcohol oxidase activity
GO:0050061 long-chain-aldehyde dehydrogenase activity
GO:0052814 medium-chain-aldehyde dehydrogenase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Microsome membrane

Domains

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DomainNameCategoryType
IPR012394 Aldehyde dehydrogenase NAD(P)-dependentFamilyFamily
IPR015590 Aldehyde dehydrogenase domainDomainDomain
IPR016160 Aldehyde dehydrogenase, cysteine active siteSiteConserved site
IPR016161 Aldehyde/histidinol dehydrogenaseFamilyHomologous superfamily
IPR016162 Aldehyde dehydrogenase, N-terminalFamilyHomologous superfamily
IPR016163 Aldehyde dehydrogenase, C-terminalFamilyHomologous superfamily
IPR029510 Aldehyde dehydrogenase, glutamic acid active siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
270200 OMIMSjoegren-Larsson syndrome (SLS)An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB12612 OzanimodDrugbanksmall molecule